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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 17-18166385-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=18166385&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 18166385,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016239.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.9812G>A",
"hgvs_p": "p.Arg3271His",
"transcript": "NM_016239.4",
"protein_id": "NP_057323.3",
"transcript_support_level": null,
"aa_start": 3271,
"aa_end": null,
"aa_length": 3530,
"cds_start": 9812,
"cds_end": null,
"cds_length": 10593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000647165.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016239.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.9812G>A",
"hgvs_p": "p.Arg3271His",
"transcript": "ENST00000647165.2",
"protein_id": "ENSP00000495481.1",
"transcript_support_level": null,
"aa_start": 3271,
"aa_end": null,
"aa_length": 3530,
"cds_start": 9812,
"cds_end": null,
"cds_length": 10593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016239.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647165.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "n.1262G>A",
"hgvs_p": null,
"transcript": "ENST00000433411.7",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000433411.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "n.350-1205G>A",
"hgvs_p": null,
"transcript": "ENST00000578575.1",
"protein_id": "ENSP00000466630.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000578575.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.1604G>A",
"hgvs_p": "p.Arg535His",
"transcript": "ENST00000418233.7",
"protein_id": "ENSP00000408800.3",
"transcript_support_level": 2,
"aa_start": 535,
"aa_end": null,
"aa_length": 797,
"cds_start": 1604,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418233.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.1604G>A",
"hgvs_p": "p.Arg535His",
"transcript": "ENST00000644795.1",
"protein_id": "ENSP00000495720.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 716,
"cds_start": 1604,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644795.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.9815G>A",
"hgvs_p": "p.Arg3272His",
"transcript": "XM_017024715.3",
"protein_id": "XP_016880204.1",
"transcript_support_level": null,
"aa_start": 3272,
"aa_end": null,
"aa_length": 3531,
"cds_start": 9815,
"cds_end": null,
"cds_length": 10596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024715.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.9752G>A",
"hgvs_p": "p.Arg3251His",
"transcript": "XM_017024714.3",
"protein_id": "XP_016880203.1",
"transcript_support_level": null,
"aa_start": 3251,
"aa_end": null,
"aa_length": 3510,
"cds_start": 9752,
"cds_end": null,
"cds_length": 10533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024714.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "c.502+2547G>A",
"hgvs_p": null,
"transcript": "ENST00000579848.6",
"protein_id": "ENSP00000465910.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 257,
"cds_start": null,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579848.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "n.2076G>A",
"hgvs_p": null,
"transcript": "ENST00000642418.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000642418.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "n.1614G>A",
"hgvs_p": null,
"transcript": "ENST00000643693.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000643693.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "n.2546G>A",
"hgvs_p": null,
"transcript": "ENST00000646782.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000646782.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "n.2243G>A",
"hgvs_p": null,
"transcript": "ENST00000651214.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000651214.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"hgvs_c": "n.718-1205G>A",
"hgvs_p": null,
"transcript": "ENST00000445289.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000445289.6"
}
],
"gene_symbol": "MYO15A",
"gene_hgnc_id": 7594,
"dbsnp": "rs373295633",
"frequency_reference_population": 0.00003470819,
"hom_count_reference_population": 0,
"allele_count_reference_population": 56,
"gnomad_exomes_af": 0.000035586,
"gnomad_genomes_af": 0.0000262809,
"gnomad_exomes_ac": 52,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6095414161682129,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.512,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0777,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.131,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_016239.4",
"gene_symbol": "MYO15A",
"hgnc_id": 7594,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.9812G>A",
"hgvs_p": "p.Arg3271His"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}